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Research Output

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

kConFab/AOCS Investigators, May 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

Research output: Contribution to journalArticle

  • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    kConFab/AOCS Investigators, May 1 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

    Research output: Contribution to journalArticle

  • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    Colombo, M., Lòpez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., Bolla, M. K. & 95 others, Dennis, J., Michailidou, K., Wang, Q., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D. M., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dörk, T., Eriksson, M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., García-Closas, M., Giles, G. G., González-Neira, A., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J. L., Jakubowska, A., Jung, A., Kosma, V-M., Lambrechts, D., Le Marchand, L., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Peterlongo, P., Peto, J., Pylkäs, K., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., See, M. H., Southey, M. C., Swerdlow, A., Teo, S. H., Toland, A. E., Tomlinson, I., Truong, T., van Asperen, C. J., van den Ouweland, A. M. W., van der Kolk, L. E., Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A. M., Easton, D. F., Henderson, A., Hogervorst, F. B. L., Izatt, L., Offitt, K., Side, L. E., van Rensburg, E. J., Embrace, S., Hebon, S., McGuffog, L., Antoniou, A. C., Chenevix-Trench, G., Spurdle, A. B., Goldgar, D. E., Hoya, M. D. L., Radice, P. & Investigators, KCAOCS., 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

    Research output: Contribution to journalArticle

  • The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

    Colombo, M., Lòpez-Perolio, I., Meeks, H. D., Caleca, L., Parsons, M. T., Li, H., De Vecchi, G., Tudini, E., Foglia, C., Mondini, P., Manoukian, S., Behar, R., Garcia, E. B. G., Meindl, A., Montagna, M., Niederacher, D., Schmidt, A. Y., Varesco, L., Wappenschmidt, B., Bolla, M. K. & 94 others, Dennis, J., Michailidou, K., Wang, Q., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Beeghly-Fadel, A., Benitez, J., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Chang-Claude, J., Conroy, D. M., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Devilee, P., Dörk, T., Eriksson, M., Fasching, P. A., Figueroa, J., Fletcher, O., Flyger, H., Gabrielson, M., García-Closas, M., Giles, G. G., González-Neira, A., Guénel, P., Haiman, C. A., Hall, P., Hamann, U., Hartman, M., Hauke, J., Hollestelle, A., Hopper, J. L., Jakubowska, A., Jung, A., Kosma, V-M., Lambrechts, D., Le Marchand, L., Lindblom, A., Lubinski, J., Mannermaa, A., Margolin, S., Miao, H., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Olson, J. E., Peterlongo, P., Peto, J., Pylkäs, K., Sawyer, E. J., Schmidt, M. K., Schmutzler, R. K., Schneeweiss, A., Schoemaker, M. J., See, M. H., Southey, M. C., Swerdlow, A., Teo, S. H., Toland, A. E., Tomlinson, I., Truong, T., van Asperen, C. J., van den Ouweland, A. M. W., van der Kolk, L. E., Winqvist, R., Yannoukakos, D., Zheng, W., Dunning, A. M., Easton, D. F., Henderson, A., Hogervorst, F. B. L., Izatt, L., Offitt, K., Side, L. E., van Rensburg, E. J., Embrace, S., Hebon, S., McGuffog, L., Antoniou, A. C., Chenevix-Trench, G., Spurdle, A. B., Goldgar, D. E., Hoya, M. D. L. & Radice, P., 2018, In : Human Mutation. 39, 5, p. 729-741 13 p.

    Research output: Contribution to journalArticle